Colombo Piergiuseppe, Buonamassa Giuseppina Adriana, Giulianini Anita, Hassan Letizia, Rudini Noemi, Rizzo Antonio, Cavallo Enrico, Carnaghi Carlo, Goudarzi Salumeh, Mongiovì Sebastiano, Pafumi Sarah, Marletta Stefano
Department of Biomedical Science, Humanitas University, Milan, Italy.
Department of Pathology, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Front Med (Lausanne). 2024 Nov 8;11:1448491. doi: 10.3389/fmed.2024.1448491. eCollection 2024.
Neurotrophic tyrosine receptor kinase (NTRK) fusions are infrequent genetic events that can occur in various tumor types. Specifically, NTRK-rearranged sarcoma has been observed in pediatric mesenchymal tumors and, to a lesser extent, in adult mesenchymal tumors like fibrosarcoma. Recently, NTRK-rearranged uterine sarcoma (US) has been identified as a rare entity characterized by constitutive activation or overexpression of the TRK receptor, which plays a role in cell proliferation and differentiation. Since its initial description in 2018, only 46 cases of NTRK-rearranged US have been reported. In this context, herein we describe an exceptional case of an fused US with histologically confirmed splenic metastasis. Notably, such localization has not been previously associated with pure uterine sarcomas in the literature. The fusion involved (exon-3) and (exon-14) genes and was identified through next-generation sequencing analysis. Recognizing this specific molecular rearrangement is crucial, as it not only enables targeted therapy but also holds diagnostic significance in specific clinical scenarios.
神经营养性酪氨酸受体激酶（NTRK）融合是一种罕见的基因事件，可发生于多种肿瘤类型。具体而言，NTRK重排肉瘤已在儿童间叶组织肿瘤中被观察到，在成人间叶组织肿瘤如纤维肉瘤中出现的频率相对较低。最近，NTRK重排子宫肉瘤（US）已被确认为一种罕见实体，其特征为TRK受体的组成性激活或过表达，TRK受体在细胞增殖和分化中起作用。自2018年首次描述以来，仅报告了46例NTRK重排的子宫肉瘤病例。在此背景下，我们在此描述一例特殊的NTRK融合子宫肉瘤病例，其组织学证实有脾脏转移。值得注意的是，这种定位在先前的文献中尚未与单纯子宫肉瘤相关联。该融合涉及 （外显子3）和 （外显子14）基因，并通过二代测序分析得以鉴定。认识到这种特定的分子重排至关重要，因为它不仅能实现靶向治疗，在特定临床情况下还具有诊断意义。
